Incidental Mutation 'R5796:Grb2'
ID 447250
Institutional Source Beutler Lab
Gene Symbol Grb2
Ensembl Gene ENSMUSG00000059923
Gene Name growth factor receptor bound protein 2
Synonyms
MMRRC Submission 043387-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5796 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115534871-115599423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 115536698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 184 (H184P)
Ref Sequence ENSEMBL: ENSMUSP00000102106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021090] [ENSMUST00000106495] [ENSMUST00000106497] [ENSMUST00000106499] [ENSMUST00000135065]
AlphaFold Q60631
Predicted Effect probably benign
Transcript: ENSMUST00000021090
AA Change: H184P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021090
Gene: ENSMUSG00000059923
AA Change: H184P

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 58 141 2.97e-35 SMART
SH3 159 214 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106495
AA Change: H170P

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000102104
Gene: ENSMUSG00000059923
AA Change: H170P

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 58 141 2.97e-35 SMART
SH3 143 200 2.08e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106497
AA Change: H184P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102106
Gene: ENSMUSG00000059923
AA Change: H184P

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 58 141 2.97e-35 SMART
SH3 159 214 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106499
AA Change: H143P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102108
Gene: ENSMUSG00000059923
AA Change: H143P

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 16 100 1.36e0 SMART
SH3 118 173 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135065
SMART Domains Protein: ENSMUSP00000117539
Gene: ENSMUSG00000059923

DomainStartEndE-ValueType
SH3 1 57 1.4e-23 SMART
Meta Mutation Damage Score 0.0861 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 93% (51/55)
MGI Phenotype FUNCTION: The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Embryos homozygous for a targeted null mutation lack expanded inner cell masses, show only a few endodermal cells, and die by embryonic day 7.5. Heterozygotes have defective T cell signaling and lack the cardiac hypertrophy response to pressure overload. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,215,077 (GRCm39) T9A possibly damaging Het
Abcd3 G A 3: 121,578,147 (GRCm39) R160W probably damaging Het
Ap3d1 G T 10: 80,549,871 (GRCm39) T758K possibly damaging Het
Ate1 T C 7: 130,068,998 (GRCm39) Y423C probably damaging Het
Bsn C T 9: 108,003,223 (GRCm39) G394D probably damaging Het
Cacna1d T C 14: 29,788,073 (GRCm39) D1599G probably damaging Het
Cd33 A G 7: 43,182,480 (GRCm39) probably null Het
Chct1 A G 11: 85,064,101 (GRCm39) T81A probably null Het
Col12a1 T C 9: 79,611,111 (GRCm39) N154D possibly damaging Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Cts3 A T 13: 61,716,517 (GRCm39) Y40N probably damaging Het
Cyfip2 T C 11: 46,089,823 (GRCm39) N1197D probably benign Het
Dclre1b G A 3: 103,714,773 (GRCm39) Q77* probably null Het
Dsc3 T A 18: 20,104,558 (GRCm39) M590L probably benign Het
Efcab14 A T 4: 115,603,780 (GRCm39) I153F probably damaging Het
Fbxo42 T C 4: 140,927,100 (GRCm39) V460A probably benign Het
Fgl1 T G 8: 41,652,796 (GRCm39) probably benign Het
Gbf1 T C 19: 46,272,782 (GRCm39) S1697P probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm15056 C A 8: 21,391,998 (GRCm39) probably benign Het
Gm17409 T A 2: 58,361,034 (GRCm39) probably benign Het
Gm20730 A G 6: 43,058,464 (GRCm39) L116P probably damaging Het
Hepacam2 G C 6: 3,466,200 (GRCm39) probably null Het
Hsd3b9 A T 3: 98,354,168 (GRCm39) D110E probably benign Het
Igkv4-55 T A 6: 69,584,432 (GRCm39) K60M possibly damaging Het
Itfg1 T A 8: 86,445,522 (GRCm39) H603L probably damaging Het
Katna1 C A 10: 7,636,575 (GRCm39) D366E probably damaging Het
Klk1b26 A G 7: 43,665,752 (GRCm39) Y188C probably damaging Het
Ldhd T C 8: 112,353,722 (GRCm39) T464A probably benign Het
Muc5b T C 7: 141,411,133 (GRCm39) S1360P unknown Het
Nckipsd T G 9: 108,688,813 (GRCm39) V116G probably benign Het
Nhsl1 C T 10: 18,399,998 (GRCm39) S374L probably benign Het
Oxt G A 2: 130,418,533 (GRCm39) G48D probably damaging Het
Pramel21 A G 4: 143,341,778 (GRCm39) N69S probably benign Het
Ptprk C T 10: 28,259,571 (GRCm39) T337I probably damaging Het
Rad54b A T 4: 11,615,446 (GRCm39) D818V probably benign Het
Rbpjl T C 2: 164,252,168 (GRCm39) probably benign Het
Recql5 T A 11: 115,818,691 (GRCm39) probably benign Het
Robo4 A T 9: 37,322,970 (GRCm39) D830V probably benign Het
Rps6kb1 C T 11: 86,402,677 (GRCm39) G339S probably benign Het
Rtel1 G A 2: 180,982,299 (GRCm39) E350K probably benign Het
Rtn3 A G 19: 7,434,832 (GRCm39) S368P possibly damaging Het
Smad5 A G 13: 56,871,645 (GRCm39) H80R probably damaging Het
Sppl2c T A 11: 104,078,619 (GRCm39) M473K probably benign Het
Tbrg1 A G 9: 37,563,871 (GRCm39) probably benign Het
Tcf7 A G 11: 52,152,354 (GRCm39) I65T probably benign Het
Tgm2 T C 2: 157,960,824 (GRCm39) D618G probably benign Het
Tuba3b C T 6: 145,565,408 (GRCm39) T292I probably damaging Het
Vmn1r63 G A 7: 5,806,140 (GRCm39) S164L probably benign Het
Zfp382 A G 7: 29,832,774 (GRCm39) K142E probably damaging Het
Zmym3 G A X: 100,459,406 (GRCm39) P308L probably benign Het
Other mutations in Grb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Hill_country UTSW 11 115,536,698 (GRCm39) missense probably benign 0.06
ANU74:Grb2 UTSW 11 115,536,733 (GRCm39) missense probably benign
R0003:Grb2 UTSW 11 115,546,251 (GRCm39) missense probably damaging 0.97
R2077:Grb2 UTSW 11 115,536,651 (GRCm39) missense probably damaging 1.00
R4260:Grb2 UTSW 11 115,540,642 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGTTGCAACCCAATGAGAGG -3'
(R):5'- GACTTAGGAGTGTGTCAGAGCG -3'

Sequencing Primer
(F):5'- CAGCCAGGTGTTCTGCGTTC -3'
(R):5'- GGGTTCCCACATGCTTGC -3'
Posted On 2016-12-15